Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001165963.4:c.2824C>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 607208.10 | Saudi Arabia | Myoclonic seizure | Male | Yes | Yes | |
| 607208.11 | Saudi Arabia | Delayed speech and language development; Intellectual disability; Ataxia; Seizure; Cerebral atrophy | Male | No | Yes | |
| 607208.12 | Saudi Arabia | Microcephaly; Global developmental delay; Myoclonic seizure | Male | |||
| 607208.14 | Saudi Arabia | Delayed speech and language development; Seizure | Male | |||
| 607208.15 | Saudi Arabia | Delayed speech and language development; Seizure; Macrocephaly; Multiple cafe-au-lait spots; Delayed speech and language development; Autistic behavior; Abnormal periventricular white matter morphology | Male |